• Gene id: 140679

Gene Summary

• Gene Symbol: SLC32A1   Gene   UCSC   Ensembl
• Aliases: VGAT, VIAAT
• Gene name: solute carrier family 32 member 1
• Alternate names: vesicular inhibitory amino acid transporter, GABA and glycine transporter, hVIAAT, solute carrier family 32 (GABA vesicular transporter), member 1, vesicular GABA transporter,
• Gene location: 20q11.23 (38724485: 38729371)     Exons: 2     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul
• OMIM: 123620

Protein Summary

• Protein general information: Q9H598  
  • Name: Vesicular inhibitory amino acid transporter (GABA and glycine transporter) (Solute carrier family 32 member 1) (Vesicular GABA transporter) (hVIAAT)
  • Length: 525  
  • Mass: 57415
  • Tissue specificity: Retina. Expressed throughout the horizontal cells or more specifically at the terminals. {ECO
• Sequence:

  MATLLRSKLSNVATSVSNKSQAKMSGMFARMGFQAATDEEAVGFAHCDDLDFEHRQGLQMDILKAEGEPCGDEGA
  EAPVEGDIHYQRGSGAPLPPSGSKDQVGGGGEFGGHDKPKITAWEAGWNVTNAIQGMFVLGLPYAILHGGYLGLF
  LIIFAAVVCCYTGKILIACLYEENEDGEVVRVRDSYVAIANACCAPRFPTLGGRVVNVAQIIELVMTCILYVVVS
  GNLMYNSFPGLPVSQKSWSIIATAVLLPCAFLKNLKAVSKFSLLCTLAHFVINILVIAYCLSRARDWAWEKVKFY
  IDVKKFPISIGIIVFSYTSQIFLPSLEGNMQQPSEFHCMMNWTHIAACVLKGLFALVAYLTWADETKEVITDNLP
  GSIRAVVNIFLVAKALLSYPLPFFAAVEVLEKSLFQEGSRAFFPACYSGDGRLKSWGLTLRCALVVFTLLMAIYV
  PHFALLMGLTGSLTGAGLCFLLPSLFHLRLLWRKLLWHQVFFDVAIFVIGGICSVSGFVHSLEGLIEAYRTNAED

• Structural information:
  • Interpro: IPR013057  
  • STRING: ENSP00000217420
• Other Databases: GeneCards:  SLC32A1  Malacards:  SLC32A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015495	gamma-aminobutyric acid:proton symporter activity	IBA	molecular function
GO:0030285	integral component of synaptic vesicle membrane	IBA	cellular component
GO:0044292	dendrite terminus	IBA	cellular component
GO:0098700	neurotransmitter loading into synaptic vesicle	IBA	biological process
GO:0003333	amino acid transmembrane transport	IBA	biological process
GO:0015171	amino acid transmembrane transporter activity	IBA	molecular function
GO:0044306	neuron projection terminus	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0030425	dendrite	IDA	cellular component
GO:0044306	neuron projection terminus	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0030672	synaptic vesicle membrane	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0015495	gamma-aminobutyric acid:proton symporter activity	TAS	molecular function
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0098700	neurotransmitter loading into synaptic vesicle	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0043229	intracellular organelle	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0021766	hippocampus development	IEA	biological process
GO:0015812	gamma-aminobutyric acid transport	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0044292	dendrite terminus	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0015816	glycine transport	IEA	biological process
GO:0015495	gamma-aminobutyric acid:proton symporter activity	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0051286	cell tip	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0044316	cone cell pedicle	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04723	Retrograde endocannabinoid signaling
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04721	Synaptic vesicle cycle
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq